BICD2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene.[5][6]
External IDsOMIM: 609797; MGI: 1924145; HomoloGene: 9070; GeneCards: BICD2; OMA:BICD2 - orthologs
This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described.[6]
Mutations in BICD2 are associated with spinal muscular atrophy with lower extremity predominance type 2A and type 2B.